Abstracts tagged "Gene Expression"

Abstract Number: 49 • 2019 ACR/ARP Annual Meeting
Towards a Single Cell Portrait of Rheumatoid Arthritis – Development of a Single Cell Multiomics Pipeline for Phase 2 of the Accelerating Medicine Partnership (AMP) – RA Network
Kevin Wei¹, Anna Helena Jonsson ¹, Fan Zhang ², Aparna Nathan ³, Joseph Mears ², Gerald Watts ², Zhu Zhu ², ilya Korsunsky ², Laura Donlin ⁴, Deepak Rao ², Andrew Filer ⁵, Accelerating Medicine Partnership (AMP) ⁶, Brendan Boyce ⁷, Ellen Gravallese ⁸, V. Michael Holers ⁹, Larry Moreland ¹⁰, Peter Gregersen ¹¹, Vivian Bykerk ¹², Jennifer Anolik ⁷, Soumya Raychaudhuri ² and Michael Brenner ¹³, ¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Harvard Medical School, Boston, MA, ⁴Hospital For Special Surgery, New York, NY, ⁵Institute of Inflammation and Ageing College of Medical and Dental Sciences University of Birmingham, Birmingham, United Kingdom, ⁶Brigham and Women's Hospital, Boston, ⁷University of Rochester Medical Center, Rochester, NY, ⁸University of Massachusetts Medical School, Worcester, MA, ⁹University of Colorado Denver, Division of Rheumatology, Aurora, CO, USA, Denver, ¹⁰University of Pittsburgh, PITTSBURGH, PA, ¹¹Feinstein Institutes for Medical Research, Manhasset, NY, ¹²Hospital for Special Surgery, New York City, NY, ¹³Brigham and Women’s Hospital:, Boston
Background/Purpose: The goal of the Accelerating Medicines Partnership (AMP) program is to study synovial tissue from individuals with rheumatoid arthritis (RA) using high-dimensional analyses. During…
Abstract Number: 899 • 2018 ACR/ARHP Annual Meeting
Changes in the Systemic Sclerosis Molecular Signatures after Myeloablation Followed By Autologous Hematopoietic Stem Cell Transplantation and Their Clinical Correlates
Shervin Assassi¹, Xuan Wang², Jun Ying³, Lynette Keyes-Elstein⁴, Ellen Goldmuntz⁵, Jacob Turner⁶, Wenjin Zheng⁷, Guocai Chen⁷, Maria Virginia Pascual⁸, John Varga⁹, Monique Hinchcliff¹⁰, Chiara Bellocchi¹¹, Peter McSweeney¹², Daniel E. Furst¹³, Richard Nash¹², Leslie Crofford¹⁴, Beverly Welch¹⁵, Ashley Pinckney¹⁶, Maureen D. Mayes¹ and Keith Sullivan¹⁷, ¹Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ²Baylor Scott & White Health, Dallas, TX, ³Department of Internal Medicine - Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁴Rho, Inc, Chapel Hill, NC, ⁵NIAID, National Institutes of Health, Bethesda, MD, ⁶Stephen F Austin University, Nacogdoches, TX, ⁷University of Texas Health Science Center at Houston, Houston, TX, ⁸Drukier Institute for Children's Health, Weill Cornell Medicine, New York, NY, ⁹Northwestern University, Chicago, IL, ¹⁰Rheumatology, Northwestern University, Chicago, IL, ¹¹Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹²Colorado Blood Cancer Institute, Denver, CO, ¹³University of California Los Angeles, Los Angeles, CA, ¹⁴Division of Rheumatology and Immunology, Vanderbilt University Medical Center, Nashville, TN, ¹⁵National Institutes of Health, Bethesda, MD, ¹⁶Rho Federal Systems, Inc., Chapel Hill, NC, ¹⁷Duke University Medical Center, Durham, NC
Background/Purpose: Myeloablation followed by autologous hematopoietic stem cell transplantation (HSCT) led to improved clinical outcomes compared to 12 monthly infusions of cyclophosphamide (CYC) in patients…
Abstract Number: 1903 • 2018 ACR/ARHP Annual Meeting
Molecular Analysis of a Skin Equivalent Tissue Culture Model System of Systemic Sclerosis Using RNA Sequencing, Epigenetic Assays, Histology, and Immunoassays
Diana M. Toledo¹, Mengqi Huang², Yue Wang², Bhaven K. Mehta², Tammara A. Wood³, Avi Smith⁴, Yolanda Nesbeth⁵, Irena Ivanovska⁶, Brock Christensen⁷, Patricia A. Pioli⁸, Jonathan Garlick⁴ and Michael L. Whitfield⁹, ¹Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Tufts University School of Medicine, Boston, MA, ⁵Celdara Medical, LLC, Lebanon, NH, ⁶Celdara Medical, LLC, Hanover, NH, ⁷Geisel School of Medicine at Dartmouth, Hanover, NH, ⁸Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁹Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: The molecular mechanisms of systemic sclerosis (SSc) have been difficult to study outside of patient samples. Mouse models often lack key features of the…
Abstract Number: 919 • 2018 ACR/ARHP Annual Meeting
A Machine Learning Classifier for Assigning Individual Patients with Systemic Sclerosis to Intrinsic Molecular Subsets
Jennifer Franks¹, Viktor Martyanov¹, Guoshuai Cai², Yue Wang³, Tammara A. Wood¹ and Michael L. Whitfield⁴, ¹Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Environmental Health Sciences, Arnold School of Public Health at University of South Carolina, Columbia, SC, ³Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: High-throughput gene expression profiling of skin biopsies from patients with systemic sclerosis (SSc) has identified four “intrinsic” gene expression subsets conserved across multiple cohorts…
Abstract Number: 1958 • 2018 ACR/ARHP Annual Meeting
Gene Expression Pathways across Multiple Tissues in Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Reveal Core Pathways of Disease Pathology
Marcia Friedman¹, Donseok Choi^1,2,3,4, Steven Planck^1,4, James T. Rosenbaum⁵ and Cailin Sibley¹, ¹Oregon Health & Science University, Portland, OR, ²OHSU-PSU School of Public Health, Portland, OR, ³Graduate School of Dentistry, Kyung Hee Universtiy, Seoul, Korea, Republic of (South), ⁴Casey Eye Institute, Portland, OR, ⁵Ophthalmology, Oregon Health & Science University and Legacy Devers Eye Institute, Portland, OR
Background/Purpose: In recent years, several studies have characterized the gene expression signatures of different tissues affected by ANCA-associated vasculitis (AAV). The purpose of this study…
Abstract Number: 921 • 2018 ACR/ARHP Annual Meeting
Multi-Omics Analysis Identifies a Gene Signature Associated with the Clinical Response to Anti-TNF Therapy in Rheumatoid Arthritis
Adrià Aterido¹, Jesús Tornero², Francisco J Blanco³, Benjamin Fernandez Gutierrez⁴, Antonio Gonzalez⁵, Juan D. Cañete⁶, Joan Maymó⁷, Mercedes Alperi-López⁸, Alejandro Olivé-Marqués⁹, Hector Corominas¹⁰, Víctor Martínez-Taboada¹¹, Isidoro Gonzalez-Alvaro¹², Antonio Fernandez-Nebro¹³, Alba Erra¹⁴, Simón Sánchez-Fernández¹⁵, María López-Lasanta¹, Mireia López-Corbeto¹, Raül Tortosa¹, Laia Codó¹⁶, Sara Marsal¹ and Antonio Julià¹, ¹Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, ²Rheumatology Department, Hospital Universitario Guadalajara, Guadalajara, Spain, ³Rheumatology Department, INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ⁴Rheumatology Department, Hospital Clínico San Carlos, Madrid, Spain, ⁵Laboratorio Investigación 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain, ⁶Rheumatology Service, Hospital Clínic of Barcelona, Barcelona, Spain, ⁷Rheumatology Department, Hospital del Mar, Barcelona, Spain, ⁸Department of Rheumatology, Hospital Universitario Central de Asturias, Asturias, Spain, ⁹Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁰Rheumatology, Hospital Universitari de la Santa Creu i Sant Pau, Barcelona, Spain, ¹¹Rheumatology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ¹²Rheumatology Department, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, ¹³UGC de Reumatología, Instituto de Investigación Biomédica de Málaga (IBIMA) Hospital Regional Universitario de Málaga Departamento de Medicina y Dermatología, Universidad de Málaga, MÁLAGA, Spain, ¹⁴Rheumatology Service, Hospital San Rafael, Barcelona, Spain, ¹⁵Rheumatology Department, Hospital General La Mancha Centro, Ciudad Real, Spain, ¹⁶Life Sciences Department, Barcelona Supercomputing Centre, Barcelona, Spain
Background/Purpose: Rheumatoid arthritis (RA) is the most common inflammatory arthritis affecting up to 1% of the population. Tumor Necrosis Factor (TNF) inhibitors have significantly improved…
Abstract Number: 1973 • 2018 ACR/ARHP Annual Meeting
Leveraging Publicly Available Gene Expression Data and Applying Machine Learning to Identify Novel Biomarkers for Rheumatoid Arthritis
Dmitry Rychkov¹, Marina Sirota² and Cindy Lin³, ¹Institute for Computational Health Sciences, University of Calfornia, San Francisco, San Francisco, CA, ²Pediatrics, Institute for Computational Health Sciences, University of California, San Francisco, San Francisco, CA, ³Stanford, Stanford, CA
Background/Purpose: Diagnosis and monitoring the disease progression of RA is challenging requiring a combination of imaging techniques and blood tests. There is currently no biochemical…
Abstract Number: 929 • 2018 ACR/ARHP Annual Meeting
Transcriptional Profiling of the Subcutaneous Rheumatoid Nodule: An Insight into Pathogenic Mechanisms and Cellular Content
Judith Marsman¹, Melanie J Millier¹, John Highton¹, Lisa K. Stamp² and Paul A Hessian¹, ¹Department of Medicine, University of Otago, Dunedin, New Zealand, ²University of Otago, Christchurch, New Zealand
Background/Purpose: Rheumatoid nodules are the most common cutaneous manifestation in patients with RA, often associated with longstanding and a more severe disease course. Paradoxically, therapy…
Abstract Number: 1974 • 2018 ACR/ARHP Annual Meeting
Dynamics of Transcriptional Signatures from Synovial Macrophage Subsets during Acute and Chronic Murine Models of Inflammatory Arthritis
Philip J. Homan¹, Anna B Montgomery², Salina Dominguez³, Carla M. Cuda³, Harris Perlman³ and Deborah R. Winter³, ¹Division of Rheumatology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, ²Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ³Department of Medicine Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL
Background/Purpose: Macrophages play an integral role in the progression and persistence of rheumatoid arthritis (RA) through production of degradative enzymes, cytokines, and chemokines and recruitment…
Abstract Number: 1094 • 2018 ACR/ARHP Annual Meeting
Endogenous Ifnβ Production Is Required for Efficient BCR Crosslinking and Survival of SLE B Cells
John D. Mountz¹, Shanrun Liu², PingAr Yang³, Qi Wu⁴, Bao Luo⁵, W. Winn Chatham⁶ and Hui-Chen Hsu⁴, ¹University of Alabama at Birmingham and Birmingham VA Medical center, Birmingham, AL, ²Biochemistry & Molecular Genetics, University of Alabama at Birmingham, Birmingham, AL, ³Department of Medicine, Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁴Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁵Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁶Medcine/Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Increased type I interferon (IFN) has been shown to affect survival and activation of B cells in SLE. This study investigated novel mechanisms of…
Abstract Number: 1978 • 2018 ACR/ARHP Annual Meeting
Genome Wide Association Studies in SLE Predict E-Genes and Gene Expression Patterns That Inform Ancestral-Specific Molecular Pathways and Targeted Therapies
Katherine Owen¹, Carl Langefeld², Bryce Aidukaitis¹, Adam Labonte¹, Michelle Catalina¹, Prathyusha Bachali¹, Timothy D Howard³, Amrie Grammer¹ and Peter E. Lipsky¹, ¹AMPEL BioSolutions and RILITE Research Institute, Charlottesville, VA, ²Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ³Center for Genomics and Personalized Medicine Research, Wake Forest University School of Medicine, Winston-Salem, NC
Background/Purpose: Systemic lupus erythematosus (SLE) is a multi-organ autoimmune disorder with an important genetic component. Genome-wide association studies (GWAS) have linked many single nucleotide polymorphisms…
Abstract Number: 1102 • 2018 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Patients with Systemic Sclerosis (SSc) Finds That Intrinsic Subsets Are Conserved across Organ Systems
Bhaven K. Mehta¹, Jennifer Franks², Yue Wang¹, Guoshuai Cai², Diana M. Toledo³, Tammara A. Wood², Kimberly A. Archambault¹, Noelle Kosarek¹, Kathleen D. Kolstad⁴, Marianna Stark⁵, Antonia Valenzuela⁶, David Fiorentino⁷, Nielsen Fernandez-Becker⁸, Laren Becker⁸, Linda Nguyen⁹, John Clarke¹⁰, Francesco Boin¹¹, Paul Wolters¹², Lorinda Chung¹³ and Michael L. Whitfield¹⁴, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Rheumatology, Stanford University Medical Center, Stanford, CA, ⁵Stanford University, Stanford, CA, ⁶Immunology and Rheumatology, Stanford University, Palo Alto, CA, ⁷Dermatology, Stanford University School of Medicine, Stanford, CA, ⁸Gastroenterology, Stanford University School of Medicine, Palo Alto, CA, ⁹Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁰Gastroenterology, Stanford University School of Medicine, Stanford, CA, ¹¹Rheumatology, University California, San Francisco, San Francisco, CA, ¹²Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ¹³Immunology and Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁴Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Internal organ involvement is the primary cause of morbidity and mortality in systemic sclerosis (SSc). Here we tested the hypothesis generated from a meta-analysis…
Abstract Number: 2014 • 2018 ACR/ARHP Annual Meeting
Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (sHLH)
Chiara Passarelli¹, Manuela Pardeo², Ivan Caiello³, Elisa Pisaneschi¹, Antonella Insalaco², Francesca Minoia⁴, Andrea Taddio⁵, Francesco Licciardi⁶, Antonio Novelli¹, Fabrizio De Benedetti⁷ and Claudia Bracaglia², ¹Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ³Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, ⁴Reumatologia Pediatrica, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ⁵Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", University of Trieste, Trieste, Italy, ⁶SCDU Pediatria II, Immunoreumatologia, Ospedale Pediatrico Regina Margherita, Turin, Italy, ⁷IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy
Background/Purpose: Macrophage activation syndrome (MAS), a severe complication of pediatric rheumatic disease, is currently classified among the secondary forms of HLH (sHLH). Primary HLH (pHLH)…
Abstract Number: 1109 • 2018 ACR/ARHP Annual Meeting
Gene Expressions of TMEM176A and TMEM176B Were Prominent at the Stage of Subclinical Pulmonary Vascular Disease in Systemic Sclerosis
Yoshinobu Koyama¹, Soichiro Fuke², Takashi Ohno³, Yoshiharu Sato⁴ and Toshie Higuchi¹, ¹Center for Autoimmune Diseases, Division of Rheumatology, Japan Red Cross Okayama Hospital, Okayama, Japan, ²Department of Cardiology, Japan Red Cross Okayama Hospital, Okayama, Japan, ³Management of medical safety, Okayama University Hospital, Okayama, Japan, ⁴DNA Chip Research Inc, Tokyo, Japan
Background/Purpose: Pulmonary arterial hypertension (PAH) is prominent as a vascular involvement of systemic sclerosis (SSc), which remains a leading cause of death in spite of…
Abstract Number: 2023 • 2018 ACR/ARHP Annual Meeting
Different Patterns of Interferon-Response-Gene Expression May Elucidate Different Pathomechanisms That Drive IFN-Response-Gene Activation in Patients with Presumed IFN-Mediated Autoinflammatory Diseases
Adriana Almeida de Jesus¹, Yanfeng Hou², Louise Malle³, Scott Canna⁴, Gina A. Montealegre Sanchez¹, Hanna Kim⁵, Rachel VanTries¹, Seza Ozen⁶, Samantha Dill⁷, Dawn C. Chapelle⁷, Bernadette Marrero¹, Yan Huang¹, Angelique Biancotto⁸ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Department of Rheumatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Shandong, China, ³Icahn School of Medicine at Mount Sinai, New York, NY, ⁴RK Mellon Institute for Pediatric Research, University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC, Pittsburrgh, PA, ⁵Pediatric Translational Research Branch, NIAMS, NIH, Bethesda, MD, ⁶Hacettepe University Vasculitis Center (HUVAC), Ankara, Turkey, ⁷Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ⁸Center for Human Immunology Autoimmunity and Inflammation (CHI), NIAID, NIH, Bethesda, MD
Background/Purpose: Many infants and children with early-onset autoinflammatory diseases are mutation-negative for genetically known autoinflammatory diseases. Recent data suggest a role for Type-I interferon dysregulation…

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